A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540869



Internal ID22409994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152182689..152182689hg38UCSC Ensembl
chrX:151351161..151351161hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455316, nssv14430844
SamplesHG00733, HG00514
Known GenesGABRA3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540869
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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